773575001: oculocutaan albinisme met congenitaal perceptief gehoorverlies (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3724256010	Ocular albinism with congenital sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724257018	Ocular albinism with congenital sensorineural deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724258011	Waardenburg syndrome type 2 with ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6485551000146110	oculocutaan albinisme met congenitaal perceptief gehoorverlies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6485561000146113	syndroom van Waardenburg type 2 met oculair albinisme	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6485571000146119	oculocutaan albinisme met congenitaal perceptief gehoorverlies (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3724843013	A rare genetic oculocutaneous disorder characterized by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724844019	A rare genetic oculocutaneous disorder characterised by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalised hypopigmentation of the skin. White forelock, premature greying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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